|OBO ID: DOID:0080672|
|Term Name:||fibrochondrogenesis 1||Search Ontology:|
|Definition:||A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21. https://pubmed.ncbi.nlm.nih.gov/21035103/|
|Ontology:||Human Disease (DOID:0080672)|
|is a type of:||
OTHER fibrochondrogenesis 1 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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